University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen

Hospital


Location: Groningen, Netherlands (NL) NL

ISNI: 0000000095584598

ROR: https://ror.org/03cv38k47

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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To

Abstract

Journal

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder (2022) Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, et al. Journal article Role of endothelial microRNA 155 on capillary leakage in systemic inflammation (2021) Etzrodt V, Idowu TO, Schenk H, Seeliger B, Prasse A, Thamm K, Pape T, et al. Journal article Obstructed defaecation syndrome: European consensus guidelines on the surgical management (2021) Picciariello A, O'Connell PR, Hahnloser D, Gallo G, Munoz-Duyos A, Schwandner O, Sileri P, et al. Journal article Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology-Polycystic Kidney Disease (SONG-PKD) Consensus Workshop. (2021) Cho Y, Tong A, Craig JC, Mustafa RA, Chapman A, Perrone RD, Ahn C, et al. Journal article Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex (2021) Bongaarts A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WG, den Dunnen WF, Coras R, et al. Journal article Long-term effect of tocilizumab in patients with giant cell arteritis: open-label extension phase of the Giant Cell Arteritis Actemra (GiACTA) trial (2021) Stone JH, Han J, Aringer M, Blockmans D, Brouwer E, Cid MC, Rech J, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype (2020) Zanoni P, Steindl K, Sengupta D, Sticht H, Joset P, Baar A, Van Ravenswaaij-Arts CMA, et al. Conference contribution Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article